Variant report

Variant	nsv823732
Chromosome Location	chr6:73904108-73904995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:73899586-73904758..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000231332	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000235174	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542356786	chr6:73904109-73904110	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554243442	chr6:73904127-73904128	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs573131489	chr6:73904130-73904131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182776640	chr6:73904172-73904173	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs35791353	chr6:73904189-73904190	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141762043	chr6:73904192-73904193	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376793772	chr6:73904202-73904203	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs202017289	chr6:73904207-73904208	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188281850	chr6:73904225-73904226	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs76981234	chr6:73904228-73904229	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs148226356	chr6:73904232-73904233	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201200702	chr6:73904233-73904234	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140171454	chr6:73904256-73904257	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201387549	chr6:73904262-73904263	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150305879	chr6:73904300-73904301	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530101249	chr6:73904323-73904324	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs137895111	chr6:73904324-73904325	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs149548711	chr6:73904345-73904346	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs146030736	chr6:73904346-73904347	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs138731994	chr6:73904354-73904355	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs149172701	chr6:73904390-73904391	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141761357	chr6:73904405-73904406	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs546835876	chr6:73904417-73904418	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571372519	chr6:73904423-73904424	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs142259226	chr6:73904430-73904431	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs146237131	chr6:73904431-73904432	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs148543637	chr6:73904448-73904449	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs142867844	chr6:73904450-73904451	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200280251	chr6:73904489-73904490	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370449215	chr6:73904492-73904493	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs150628078	chr6:73904501-73904502	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs139694067	chr6:73904533-73904534	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373955161	chr6:73904551-73904552	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs144579088	chr6:73904552-73904553	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs61743058	chr6:73904557-73904558	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377110048	chr6:73904577-73904578	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs17810318	chr6:73904612-73904613	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200730063	chr6:73904616-73904617	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572619769	chr6:73904626-73904627	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370589256	chr6:73904676-73904677	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs370510594	chr6:73904703-73904704	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs145583993	chr6:73904766-73904767	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577357830	chr6:73904774-73904775	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544623425	chr6:73904785-73904786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375069511	chr6:73904819-73904820	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201446907	chr6:73904834-73904835	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113827025	chr6:73904838-73904839	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375348261	chr6:73904843-73904844	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368432530	chr6:73904849-73904850	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148860877	chr6:73904855-73904856	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73869000-73904200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73890800-73904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:73890800-73904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:73890800-73904400	Weak transcription	Aorta	Aorta
5	chr6:73891000-73909600	Weak transcription	HSMMtube	muscle
6	chr6:73891200-73904400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:73892000-73904800	Weak transcription	GM12878-XiMat	blood
8	chr6:73893200-73904400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:73893400-73904200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:73901000-73910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:73901200-73904200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:73901200-73904400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:73901600-73904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:73901800-73904200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:73902200-73904200	Weak transcription	Dnd41	blood
16	chr6:73902200-73906200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:73902200-73910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:73902800-73916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:73903000-73906800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:73903000-73910400	Weak transcription	HSMM	muscle
21	chr6:73903000-73912200	Weak transcription	Thymus	Thymus
22	chr6:73903400-73907000	Weak transcription	Fetal Brain Female	brain
23	chr6:73903400-73907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:73903600-73906000	Strong transcription	Primary T cells from cord blood	blood
25	chr6:73903600-73907000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr6:73903600-73907600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:73903800-73905200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:73903800-73906400	Strong transcription	Primary B cells from cord blood	blood
29	chr6:73903800-73910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:73904000-73904400	Weak transcription	Gastric	stomach
31	chr6:73904000-73907800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:73904200-73904800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:73904200-73905000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:73904200-73905000	Strong transcription	Dnd41	blood
35	chr6:73904200-73905200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:73904200-73905400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr6:73904200-73906200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:73904200-73906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:73904400-73904600	Genic enhancers	Gastric	stomach
40	chr6:73904400-73904800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:73904400-73905000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:73904400-73905200	Strong transcription	Aorta	Aorta
43	chr6:73904400-73905400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:73904400-73905400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:73904600-73906600	Weak transcription	Gastric	stomach
46	chr6:73904800-73906800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:73904800-73910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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